Keratocan

Identifiers

KERA ; CNA2; KTN; SLRR2B

External IDs

OMIM: 603288 MGI: 1202398 HomoloGene: 5106 GeneCards: KERA Gene

Gene ontology
Molecular function	• molecular_function
Cellular component	• extracellular region • proteinaceous extracellular matrix • Golgi lumen • lysosomal lumen
Biological process	• carbohydrate metabolic process • visual perception • keratan sulfate biosynthetic process • glycosaminoglycan metabolic process • keratan sulfate metabolic process • keratan sulfate catabolic process • small molecule metabolic process • response to stimulus • cornea development in camera-type eye
Sources: Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

Chr 12:
91.44 – 91.45 Mb

Chr 10:
97.61 – 97.61 Mb

PubMed search

Keratocan (KTN) also known as keratan sulfate proteoglycan keratocan is a protein that in humans is encoded by the KERA gene.^[1]^[2]^[3]

Keratan sulfate proteoglycans (KSPGs) are members of the small leucine-rich proteoglycan (SLRP) family. KSPGs, particularly keratocan, lumican and mimecan, are important to the transparency of the cornea.^[3]

Mutations of the gene cause cornea plana 2.

References

↑ Tasheva ES, Funderburgh JL, Funderburgh ML, Corpuz LM, Conrad GW (Jan 2000). "Structure and sequence of the gene encoding human keratocan". DNA Seq 10 (1): 67–74. doi:10.3109/10425179909033939. PMID 10565548.
↑ Pellegata NS, Dieguez-Lucena JL, Joensuu T, Lau S, Montgomery KT, Krahe R, Kivela T, Kucherlapati R, Forsius H, de la Chapelle A (Jun 2000). "Mutations in KERA, encoding keratocan, cause cornea plana". Nat Genet 25 (1): 91–5. doi:10.1038/75664. PMID 10802664.
↑ 3.0 3.1 "Entrez Gene: KERA keratocan".

Kurpakus Wheater M, Kernacki KA, Hazlett LD (1999). "Corneal cell proteins and ocular surface pathology.". Biotechnic & histochemistry : official publication of the Biological Stain Commission 74 (3): 146–59. doi:10.3109/10520299909047967. PMID 10416788.
Tahvanainen E, Forsius H, Karila E et al. (1995). "Cornea plana congenita gene assigned to the long arm of chromosome 12 by linkage analysis.". Genomics 26 (2): 290–3. doi:10.1016/0888-7543(95)80213-6. PMID 7601455.
Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
Tasheva ES, Pettenati M, Von Kap-Her C, Conrad GW (2000). "Assignment of keratocan gene (KERA) to human chromosome band 12q22 by in situ hybridization.". Cytogenet. Cell Genet. 88 (3-4): 244–5. doi:10.1159/000015528. PMID 10828599.
Tasheva ES, Conrad AH, Conrad GW (2000). "Identification and characterization of conserved cis-regulatory elements in the human keratocan gene promoter.". Biochim. Biophys. Acta 1492 (2-3): 452–9. doi:10.1016/s0167-4781(00)00129-9. PMID 10899581.
Wentz-Hunter K, Cheng EL, Ueda J et al. (2002). "Keratocan expression is increased in the stroma of keratoconus corneas.". Mol. Med. 7 (7): 470–7. PMC 1950054. PMID 11683372.
Lehmann OJ, El-ashry MF, Ebenezer ND et al. (2002). "A novel keratocan mutation causing autosomal recessive cornea plana.". Invest. Ophthalmol. Vis. Sci. 42 (13): 3118–22. PMID 11726611.
Strausberg RL, Feingold EA, Grouse LH et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Khan A, Al-Saif A, Kambouris M (2004). "A novel KERA mutation associated with autosomal recessive cornea plana.". Ophthalmic Genet. 25 (2): 147–52. doi:10.1080/13816810490514397. PMID 15370545.
Gerhard DS, Wagner L, Feingold EA et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Ebenezer ND, Patel CB, Hariprasad SM et al. (2005). "Clinical and molecular characterization of a family with autosomal recessive cornea plana.". Arch. Ophthalmol. 123 (9): 1248–53. doi:10.1001/archopht.123.9.1248. PMID 16157807.
Liu T, Qian WJ, Gritsenko MA et al. (2006). "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.". J. Proteome Res. 4 (6): 2070–80. doi:10.1021/pr0502065. PMC 1850943. PMID 16335952.
Szabó V, Balogh K, Süveges I et al. (2006). "The role of lumican and keratocan genes in persistent subepithelial corneal haze following excimer laser photorefractive keratectomy.". Mol. Vis. 12: 597–605. PMID 16760896.
Khan AO, Aldahmesh M, Meyer B (2006). "Recessive cornea plana in the Kingdom of Saudi Arabia.". Ophthalmology 113 (10): 1773–8. doi:10.1016/j.ophtha.2006.04.026. PMID 17011957.
Aldave AJ, Sonmez B, Bourla N et al. (2007). "Autosomal dominant cornea plana is not associated with pathogenic mutations in DCN, DSPG3, FOXC1, KERA, LUM, or PITX2.". Ophthalmic Genet. 28 (2): 57–67. doi:10.1080/13816810701351321. PMID 17558846.
Liskova P, Hysi PG, Williams D et al. (2007). "Study of p.N247S KERA mutation in a British family with cornea plana.". Mol. Vis. 13: 1339–47. PMID 17679937.

Protein, glycoconjugate: glycoproteins and glycopeptides

Mucoproteins

Mucin	CD43 CD164 MUC1 MUC2 MUC3A MUC3B MUC4 MUC5AC MUC5B MUC6 MUC7 MUC8 MUC12 MUC13 MUC15 MUC16 MUC17 MUC19 MUC20

Other	Haptoglobin Intrinsic factor Orosomucoid Peptidoglycan Phytohaemagglutinin Ovomucin

Proteoglycans

CS/DS	Decorin Biglycan Versican

HS/CS	Testican Perlecan

CS	Chondroitin sulfate proteoglycans: Aggrecan Neurocan Brevican CD44 CSPG4 CSPG5 Platelet factor 4 Structural maintenance of chromosomes 3

KS	Fibromodulin Lumican Keratocan

HS	Syndecan 1

Other

Index of inborn errors of metabolism

Description	Metabolism Enzymes and pathways: citric acid cycle enzymes pentose phosphate intermediates glycoproteins enzymes glycosaminoglycans proteoglycan enzymes phospholipid metabolism cholesterol and steroid intermediates sphingolipids enzymes eicosanoids enzymes amino acid intermediates urea cycle enzymes nucleotide intermediates

Disorders	Citric acid cycle and electron transport chain Glycoprotein Proteoglycan Fatty-acid Phospholipid Cholesterol and steroid Eicosanoid Amino acid Purine-pyrimidine Heme metabolism Symptoms and signs

Treatment	Drugs other

Index of biochemical families

Carbohydrates	Alcohols Glycoproteins Glycosides

Lipids	Eicosanoids Fatty acids intermediates Glycerides Phospholipids Sphingolipids Steroids

Nucleic acids	Constituents intermediates

Proteins	Amino acids intermediates

Other	Tetrapyrroles intermediates

Eye proteins

Opsin (retinylidene protein)

visual	Rhodopsin Photopsin (OPN1LW OPN1MW/OPN1MW2 OPN1SW)

nonvisual	Melanopsin OPN3 OPN5

Crystallin

Alpha (A
B)
Beta (A1
A2
A4
B1
B2
B3)
Gamma (A
B
C
D
N
S)

Other

Index of the eye

Description	Anatomy orbit neural pathways Physiology Phenomena appearance visual optical illusions proteins Development

Disease	Congenital Corneal dystrophy Neoplasms and cancer Other Symptoms and signs

Treatment	Procedures Drugs infection glaucoma and miosis mydriatics vascular

Keratocan

References

Further reading